{"id":"W2557591007","doi":"10.1007/s10545-016-9991-4","title":"Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency","year":2016,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":319,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Rare Disease Foundation; Univerzita Karlova v Praze","keywords":"Cobalamin; Methylenetetrahydrofolate reductase; Medicine; Human genetics; Genetics; Biology; Internal medicine; Vitamin B12; Allele; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003161464,0.001662205,0.002815786,0.007640518,0.0006156605,0.001293601,0.003934482,0.003771859,0.01442302],"category_scores_gemma":[0.008797049,0.0006677493,0.003405463,0.005172165,0.0005828945,0.001900969,0.00114367,0.002373456,0.005909724],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002185687,"about_ca_system_score_gemma":0.007602728,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01054473,"about_ca_topic_score_gemma":0.0146313,"domain_scores_codex":[0.9966008,0.0009255652,0.001410843,0.0001530995,0.0007811103,0.0001286252],"domain_scores_gemma":[0.9946091,0.00193624,0.001254317,0.0001121054,0.001917621,0.0001706508],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001983059,0.0001352089,0.0004457902,0.1257989,0.0004566395,0.0005303202,0.0002970985,0.0004939546,0.000924778,0.004348544,0.2993145,0.5670561],"study_design_scores_gemma":[0.0001959166,0.00007457104,0.002115478,0.1593628,0.001076731,0.001706368,0.0001876036,0.0001648105,0.0003031584,0.003811938,0.8309528,0.00004783359],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0003625308,0.9715638,0.002180402,0.01079561,0.001641361,0.001111065,0.003352494,0.0001524553,0.008840368],"genre_scores_gemma":[0.002855971,0.9576213,0.02283179,0.005222813,0.0005071065,0.001682001,0.004207791,0.00003877276,0.005032398],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.01442302,"threshold_uncertainty_score":0.04824978,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09496233079956377,"score_gpt":0.4138215656559049,"score_spread":0.3188592348563411,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}